Canonical Allele Identifier: CA392972936

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502049A>C (hg19) ; chr15:g.68209711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209711A>C , CM000677.2:g.68209711A>C	GRCh38
NC_000015.9:g.68502049A>C , CM000677.1:g.68502049A>C	GRCh37
NC_000015.8:g.66289103A>C	NCBI36
NG_008764.2:g.52501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.591T>G MANE Select	ENSP00000249806.5:p.Phe197Leu
ENST00000562767.2:c.84-12083T>G	ENSP00000456336.1:n.84-12083T>G
ENST00000563917.2:n.433T>G
ENST00000565471.6:c.132T>G	ENSP00000457384.1:p.Phe44Leu
ENST00000635747.1:c.*494T>G	ENSP00000490627.1:n.*494T>G
ENST00000636212.1:c.*261T>G	ENSP00000489851.1:n.*261T>G
ENST00000636314.1:c.287T>G	ENSP00000490295.1:p.Leu96Ter
ENST00000636674.1:n.1693T>G
ENST00000636964.1:n.2119T>G
ENST00000637054.1:c.198+8825T>G	ENSP00000490807.1:n.198+8825T>G
ENST00000637223.1:c.*305T>G	ENSP00000490010.1:n.*305T>G
ENST00000637329.1:c.560T>G
ENST00000637450.1:c.*245T>G	ENSP00000490204.1:n.*245T>G
ENST00000637494.1:c.303T>G	ENSP00000490057.1:p.Phe101Leu
ENST00000637667.1:c.492T>G	ENSP00000489843.1:p.Phe164Leu
ENST00000637823.1:c.416T>G
ENST00000637888.1:c.198+8825T>G	ENSP00000490546.1:n.198+8825T>G
ENST00000638076.1:c.*194T>G	ENSP00000490373.1:n.*194T>G
ENST00000638144.1:n.234T>G
ENST00000646164.1:c.38+8825T>G
ENST00000249806.9:c.591T>G	ENSP00000249806.5:p.Phe197Leu
ENST00000538696.5:c.687T>G	ENSP00000445770.1:p.Phe229Leu
ENST00000562767.1:c.84-12083T>G	ENSP00000456336.1:n.84-12083T>G
ENST00000563917.1:n.491T>G
ENST00000564752.1:c.617T>G	ENSP00000457822.1:p.Leu206Ter
ENST00000565471.5:c.132T>G	ENSP00000457384.1:p.Phe44Leu
ENST00000566347.5:c.402T>G	ENSP00000457783.1:p.Phe134Leu
ENST00000567060.5:c.307T>G	ENSP00000454818.1:p.Tyr103Asp
NM_017882.2:c.591T>G	NP_060352.1:p.Phe197Leu
XR_931861.1:n.813T>G
NM_017882.3:c.591T>G MANE Select	NP_060352.1:p.Phe197Leu